Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4633
Gene Symbol: MYL2
MYL2 		myosin light chain 2 0.601 0.615 2.7E-08
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		disease 0.700 definitive 1.000 24 10 1980 2019
Entrez Id: 4633
Gene Symbol: MYL2
MYL2 		myosin light chain 2 0.601 0.615 2.7E-08
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.500 None 0.971 25 10 1996 2019
Entrez Id: 4633
Gene Symbol: MYL2
MYL2 		myosin light chain 2 0.601 0.615 2.7E-08
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.440 None 1.000 0 2 2007 2019
Entrez Id: 4633
Gene Symbol: MYL2
MYL2 		myosin light chain 2 0.601 0.615 2.7E-08
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.430 None 1.000 0 5 1997 2019
Entrez Id: 4633
Gene Symbol: MYL2
MYL2 		myosin light chain 2 0.601 0.615 2.7E-08
CUI: C4022012
Disease: Death in early adulthood
Death in early adulthood 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4633
Gene Symbol: MYL2
MYL2 		myosin light chain 2 0.601 0.615 2.7E-08
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.100 None 0 1
Entrez Id: 4633
Gene Symbol: MYL2
MYL2 		myosin light chain 2 0.601 0.615 2.7E-08
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		disease 0.100 None 0 1